ArticleCommunications biology2022
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency.
Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 31 citations in OpenAlex.
- ProtectiveiScience · 2026Article
- CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.Human genetics · 2026Article
- Rethinking HNF1A-MODY: HNF1A at the crossroads of development and multiorgan metabolic disease.Genes & development · 2026Article
- Defective HNF1A hinders GLI3 processing favoring duodenal versus pancreatic fate, thus leading to intestinal elongation in vivo.Genes & development · 2026Article
- Article
- Breakpoint-resolved balanced t(2;12)(q35;q24.31) disruptingMetabolism open · 2026Article
- Integrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes.Genome medicine · 2026Article
- Gut microbiota and metabolic disease risk in youth.Cell reports. Medicine · 2026Review
- Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.Irish journal of medical science · 2025Article
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Efficient cytoplasmic cell quantification using a semi-automated FIJI-based tool.Scientific reports · 2025Article
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Exploring proinsulin proteostasis: insights into beta cell health and diabetes.Frontiers in molecular biosciences · 2025Review
- The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.Frontiers in endocrinology · 2025Review
- Investigating the pathogenicity of the recessivemedRxiv : the preprint server for health sciences · 2024Article
- A noncoding variant confers pancreatic differentiation defect and contributes to diabetes susceptibility by recruiting RXRA.Nature communications · 2024Article
- Recent progress in modeling and treating diabetes using stem cell-derived islets.Stem cells translational medicine · 2024Review
- Ameliorating and refining islet organoids to illuminate treatment and pathogenesis of diabetes mellitus.Stem cell research & therapy · 2024Review
- Article
- A multi-layered network model identifies Akt1 as a common modulator of neurodegeneration.Molecular systems biology · 2023Article
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 1 country.
Funding
Abstract
Mutations in HNF1A cause Maturity Onset Diabetes of the Young (HNF1A-MODY). To understand mechanisms of β-cell dysfunction, we generated stem cell-derived pancreatic endocrine cells with hypomorphic mutations in HNF1A. HNF1A-deficient β-cells display impaired basal and glucose stimulated-insulin secretion, reduced intracellular calcium levels in association with a reduction in CACNA1A expression, and accumulation of abnormal insulin granules in association with SYT13 down-regulation. Knockout of CACNA1A and SYT13 reproduce the relevant phenotypes. In HNF1A deficient β-cells, glibenclamide, a sulfonylurea drug used in the treatment of HNF1A-MODY patients, increases intracellular calcium, and restores insulin secretion. While insulin secretion defects are constitutive in β-cells null for HNF1A, β-cells heterozygous for hypomorphic HNF1A (R200Q) mutations lose the ability to secrete insulin gradually; this phenotype is prevented by correction of the mutation. Our studies illuminate the molecular basis for the efficacy of treatment of HNF1A-MODY with sulfonylureas, and suggest promise for the use of cell therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.